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Aliases for POLE Gene

Aliases for POLE Gene

  • Polymerase (DNA) Epsilon, Catalytic Subunit 2 3
  • Polymerase (DNA Directed), Epsilon, Catalytic Subunit 3 5
  • DNA Polymerase II Subunit A 3 4
  • EC 2.7.7.7 4 63
  • POLE1 3 4
  • DNA Polymerase Epsilon Catalytic Subunit Protein 3
  • DNA Polymerase Epsilon Catalytic Subunit A 2
  • Polymerase (DNA Directed), Epsilon 2
  • EC 2.7.7 63
  • CRCS12 3
  • FILS 3

External Ids for POLE Gene

Previous GeneCards Identifiers for POLE Gene

  • GC12U990073
  • GC12P132569
  • GC12M132825
  • GC12M131439
  • GC12M131810
  • GC12M131710
  • GC12M133200
  • GC12M129980

Summaries for POLE Gene

Entrez Gene Summary for POLE Gene

  • This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]

GeneCards Summary for POLE Gene

POLE (Polymerase (DNA) Epsilon, Catalytic Subunit) is a Protein Coding gene. Diseases associated with POLE include fils syndrome and colorectal cancer 12. Among its related pathways are Metabolism and Cell Cycle, Mitotic. GO annotations related to this gene include nucleic acid binding and chromatin binding.

UniProtKB/Swiss-Prot for POLE Gene

  • Participates in DNA repair and in chromosomal DNA replication.

Gene Wiki entry for POLE Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLE Gene

Genomics for POLE Gene

Regulatory Elements for POLE Gene

Genomic Location for POLE Gene

Chromosome:
12
Start:
132,623,753 bp from pter
End:
132,687,524 bp from pter
Size:
63,772 bases
Orientation:
Minus strand

Genomic View for POLE Gene

Genes around POLE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POLE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLE Gene

Proteins for POLE Gene

  • Protein details for POLE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07864-DPOE1_HUMAN
    Recommended name:
    DNA polymerase epsilon catalytic subunit A
    Protein Accession:
    Q07864
    Secondary Accessions:
    • Q13533
    • Q86VH9

    Protein attributes for POLE Gene

    Size:
    2286 amino acids
    Molecular mass:
    261518 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Quaternary structure:
    • Catalytic and central component of the epsilon DNA polymerase complex consisting of four subunits: POLE, POLE2, POLE3 and POLE4. Interacts with RAD17 and TOPBP1.
    SequenceCaution:
    • Sequence=AAA15448.1; Type=Frameshift; Positions=443, 448; Evidence={ECO:0000305}; Sequence=AAA15448.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305};

neXtProt entry for POLE Gene

Proteomics data for POLE Gene at MOPED

Post-translational modifications for POLE Gene

  • Ubiquitination at Lys 431, Lys 2110, and Lys 2124
  • Modification sites at PhosphoSitePlus

Other Protein References for POLE Gene

Antibody Products

Domains & Families for POLE Gene

Gene Families for POLE Gene

Graphical View of Domain Structure for InterPro Entry

Q07864

UniProtKB/Swiss-Prot:

DPOE1_HUMAN :
  • The DNA polymerase activity domain resides in the N-terminal half of the protein, while the C-terminus is necessary for complexing subunits B and C. The C-terminus may also regulate the catalytic activities of the enzyme.
  • Belongs to the DNA polymerase type-B family.
  • Contains 1 CysA-type zinc finger.
Domain:
  • The DNA polymerase activity domain resides in the N-terminal half of the protein, while the C-terminus is necessary for complexing subunits B and C. The C-terminus may also regulate the catalytic activities of the enzyme.
  • The CysB motif binds 1 4Fe-4S cluster and is required for the formation of polymerase complexes.
Family:
  • Belongs to the DNA polymerase type-B family.
Similarity:
  • Contains 1 CysA-type zinc finger.
genes like me logo Genes that share domains with POLE: view

Function for POLE Gene

Molecular function for POLE Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
UniProtKB/Swiss-Prot Function:
Participates in DNA repair and in chromosomal DNA replication.

Enzyme Numbers (IUBMB) for POLE Gene

Gene Ontology (GO) - Molecular Function for POLE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003887 DNA-directed DNA polymerase activity IEA,IMP 16762037
GO:0008408 3-5 exonuclease activity IEA --
genes like me logo Genes that share ontologies with POLE: view
genes like me logo Genes that share phenotypes with POLE: view

Human Phenotype Ontology for POLE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for POLE Gene

Localization for POLE Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLE Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POLE Gene COMPARTMENTS Subcellular localization image for POLE gene
Compartment Confidence
nucleus 5
plasma membrane 5
cytosol 3
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for POLE Gene

Pathways & Interactions for POLE Gene

SuperPathways for POLE Gene

genes like me logo Genes that share pathways with POLE: view

Gene Ontology (GO) - Biological Process for POLE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000722 telomere maintenance via recombination TAS --
GO:0006260 DNA replication IEA,IMP 16762037
GO:0006297 nucleotide-excision repair, DNA gap filling IMP 20227374
GO:0032201 telomere maintenance via semi-conservative replication TAS --
GO:0071897 DNA biosynthetic process IEA --
genes like me logo Genes that share ontologies with POLE: view

No data available for SIGNOR curated interactions for POLE Gene

Drugs & Compounds for POLE Gene

(5) Drugs for POLE Gene - From: HMDB and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cladribine Approved, Investigational Pharma Target, inhibitor Apoptosis inducer in CLL cells 67
dctp Experimental Pharma 0
Deoxyadenosine triphosphate Experimental Pharma 0
dgtp Experimental Pharma 0
Diphosphate Experimental Pharma 0

(2) Additional Compounds for POLE Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Thymidine 5'-triphosphate
  • 2'-Deoxythymidine 5'-triphosphate
  • 2'-Deoxythymidine triphosphate
  • 5'-TTP
  • 5-Methyl-dUTP
  • Deoxy-TTP
365-08-2
genes like me logo Genes that share compounds with POLE: view

Transcripts for POLE Gene

Unigene Clusters for POLE Gene

Polymerase (DNA directed), epsilon, catalytic subunit:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for POLE Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b · 15c ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1: - - -
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32a · 32b ^ 33 ^ 34 ^ 35 ^ 36a · 36b ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^
SP1: - - -
SP2: - -
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 43 ^ 44a · 44b ^ 45a · 45b ^ 46a · 46b · 46c ^ 47a · 47b ^ 48a · 48b ^ 49 ^ 50 ^ 51a · 51b · 51c
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4:
SP5:
SP6: - - -
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for POLE Gene

GeneLoc Exon Structure for
POLE
ECgene alternative splicing isoforms for
POLE

Expression for POLE Gene

mRNA expression in normal human tissues for POLE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for POLE Gene

This gene is overexpressed in Brain - Cerebellum (x4.5) and Brain - Cerebellar Hemisphere (x4.3).

Protein differential expression in normal tissues from HIPED for POLE Gene

This gene is overexpressed in Lavage (49.0) and Monocytes (13.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for POLE Gene



SOURCE GeneReport for Unigene cluster for POLE Gene Hs.524871

genes like me logo Genes that share expression patterns with POLE: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for POLE Gene

Orthologs for POLE Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for POLE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POLE 35
  • 99.72 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia POLE 35
  • 88.25 (n)
  • 91.86 (a)
POLE 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POLE 36
  • 92 (a)
OneToOne
POLE 35
  • 88.11 (n)
  • 91.51 (a)
mouse
(Mus musculus)
Mammalia Pole 36
  • 91 (a)
OneToOne
Pole 35
  • 86.13 (n)
  • 91.17 (a)
Pole 16
oppossum
(Monodelphis domestica)
Mammalia POLE 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 97 (a)
OneToMany
-- 36
  • 98 (a)
OneToMany
-- 36
  • 86 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pole 35
  • 86.19 (n)
  • 91.61 (a)
chicken
(Gallus gallus)
Aves POLE 35
  • 79.04 (n)
  • 84.17 (a)
POLE 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POLE 36
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia pole-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pole 35
  • 73.01 (n)
  • 81.99 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1164 35
zebrafish
(Danio rerio)
Actinopterygii pole 36
  • 80 (a)
OneToOne
pole 35
  • 73.72 (n)
  • 80.6 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004615 35
  • 57.36 (n)
  • 58.15 (a)
fruit fly
(Drosophila melanogaster)
Insecta DNApol-egr 37
  • 40 (a)
DNApol-epsilon 35
  • 60.35 (n)
  • 57.55 (a)
DNApol-epsilon 36
  • 56 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F33H2.5 37
  • 43 (a)
F33H2.5 35
  • 51.63 (n)
  • 47.43 (a)
F33H2.5 36
  • 45 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR657C 35
  • 50.04 (n)
  • 46.31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes POL2 35
  • 48.91 (n)
  • 45.22 (a)
POL2 36
  • 41 (a)
OneToOne
POL2 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C02585g 35
  • 49.78 (n)
  • 47.03 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons TIL1 35
  • 50.54 (n)
  • 45.92 (a)
rice
(Oryza sativa)
Liliopsida Os02g0511900 35
  • 50.76 (n)
  • 46.54 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU04548 35
  • 53.73 (n)
  • 46.19 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cdc20 35
  • 48.64 (n)
  • 45.68 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 57 (a)
OneToOne
Species with no ortholog for POLE:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for POLE Gene

ENSEMBL:
Gene Tree for POLE (if available)
TreeFam:
Gene Tree for POLE (if available)

Paralogs for POLE Gene

genes like me logo Genes that share paralogs with POLE: view

No data available for Paralogs for POLE Gene

Variants for POLE Gene

Sequence variations from dbSNP and Humsavar for POLE Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs5744751 - 132,677,409(-) AAATG(C/T)TTTTC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs5744760 - 132,676,107(-) CTTCA(A/G)TGAAC nc-transcript-variant, reference, missense
rs5744799 - 132,668,446(-) AGAAG(A/C/G/T)TCCCC nc-transcript-variant, reference, missense
rs5744933 - 132,643,943(-) GGTCT(A/G)CAATC nc-transcript-variant, reference, missense
rs5744934 - 132,643,940(-) CTACA(A/G)TCTCT nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for POLE Gene

Variant ID Type Subtype PubMed ID
dgv1531n71 CNV Loss 21882294
dgv1534n71 CNV Loss 21882294
dgv1536n71 CNV Loss 21882294
dgv1543n71 CNV Loss 21882294
nsv899826 CNV Loss 21882294
esv2422284 CNV Deletion 17116639
nsv899827 CNV Gain 21882294
esv2665414 CNV Deletion 23128226
esv1667239 CNV Deletion 17803354
nsv820101 CNV Loss 19587683
esv2747031 CNV Deletion 23290073
esv2747032 CNV Deletion 23290073
nsv512304 CNV Loss 21212237

Variation tolerance for POLE Gene

Residual Variation Intolerance Score: 2.77% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.99; 87.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POLE Gene

HapMap Linkage Disequilibrium report
POLE
Human Gene Mutation Database (HGMD)
POLE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLE Gene

Disorders for POLE Gene

MalaCards: The human disease database

(9) MalaCards diseases for POLE Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
fils syndrome
  • facial dysmorphism, immunodeficiency, livedo, and short stature
colorectal cancer 12
  • colorectal cancer, susceptibility to, 12
polymerase proofreading-associated adenomatous polyposis
  • ppap
colorectal cancer susceptibility 12
  • crcs12
endometrioid ovary carcinoma
  • endometrioid carcinoma of ovary
- elite association - COSMIC cancer census association via MalaCards
Search POLE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DPOE1_HUMAN
  • Colorectal cancer 12 (CRCS12) [MIM:615083]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. CRCS12 is characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset is usually before age 40 years. The histologic features of the tumors are unremarkable. {ECO:0000269 PubMed:23263490, ECO:0000269 PubMed:24501277}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS) [MIM:615139]: A syndrome characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, and immunodeficiency resulting in recurrent infections. Growth impairment is observed during early childhood and results in variable short stature in adulthood. {ECO:0000269 PubMed:23230001}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for POLE

Genetic Association Database (GAD)
POLE
Human Genome Epidemiology (HuGE) Navigator
POLE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POLE
genes like me logo Genes that share disorders with POLE: view

No data available for Genatlas for POLE Gene

Publications for POLE Gene

  1. Molecular cloning of the cDNA for the catalytic subunit of human DNA polymerase epsilon. (PMID: 8486689) Kesti T. … Syvaeoja J.E. (J. Biol. Chem. 1993) 3 4 23 67
  2. Mechanisms of anti-cancer action and pharmacology of clofarabine. (PMID: 19576186) Zhenchuk A. … Albertioni F. (Biochem. Pharmacol. 2009) 25 26
  3. Localization of the gene for DNA polymerase epsilon (POLE) to human chromosome 12q24.3 and rat chromosome 12 by somatic cell hybrid panels and fluorescence in situ hybridization. (PMID: 8020968) Szpirer J. … Szpirer C. (Genomics 1994) 2 3
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  5. Polymerase I/ (POLE) ultra-mutated tumors induce robust tumor-specific CD4+ T cell responses in endometrial cancer patients. (PMID: 25931171) Bellone S. … Santin A.D. (Gynecol. Oncol. 2015) 3

Products for POLE Gene

Sources for POLE Gene

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